Q19E (p.Gln19Glu) variant of BBS4 (BBSome complex member BBS4)
Q19E (p.Gln19Glu) in BBS4 (BBSome complex member BBS4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
Q19E (p.Gln19Glu) variant details
- p.Gln19Glu
- gnomAD 15-72695207-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.13
- MetaLR 0.22
- MetaSVM -0.83
- CADD 10.80
- PolyPhen-2 0.00
- SIFT 0.75
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available